rs1800682

A case-control study of 503 breast cancer patients and 503 healthy controls in northwest Chinese Han population found that rs17530068 (LOC105377871) increases breast cancer risk (p=0.047, OR=1.23, 95% CI=1.00-1.50 in log-additive model), and rs4784227 (CASC16) significantly increases risk of lymph node metastasis in breast cancer patients (p=0.025, OR=1.51, 95% CI=1.05-2.17 for allele model; p=0.008, OR=1.99, 95% CI=1.20-3.31 in codominant model).

This case-control association study examined three genetic variants in the FAS and FASL apoptosis genes in 607 prostate cancer patients treated with radiotherapy. The FASL -844C>T polymorphism (rs763110) showed a significant protective effect against radiation-induced late toxicity, with carriers of the T allele having reduced risk (HR 0.585, 95% CI 0.39-0.878, p=0.010). The FAS -1377G>A and -670A>G variants showed no significant associations.

This is a comprehensive journal compilation containing multiple oncology and pharmacogenomics studies published in 2013 across various journals. The collection includes 60+ papers covering cancer treatment outcomes, genetic polymorphisms predicting chemotherapy response and survival, pharmacogenetic variants in drug metabolism and DNA repair genes, and prognostic biomarkers in various cancer types including breast, lung, colorectal, hematologic malignancies, and others. Key findings include associations of XRCC1 variants (rs915927, rs76507, rs2854501, rs2854509, rs3213255) with bladder cancer chemotherapy survival, ABCG2 rs2725264 with lung cancer overall survival (HR 3.22), SLCO1B1 rs4149056 with methotrexate pharmacokinetics, MTHFR rs1801131 with acute lymphoblastic leukemia outcome, and ABCC3/GSTM variants with acute myeloid leukemia survival.

Case-control study of 100 Turkish RA patients and 101 controls investigating associations between Fas and FasL gene polymorphisms and rheumatoid arthritis susceptibility and severity. FasL-844 T/T genotype (rs763110) was 4.8-fold higher in RA patients (OR 4.838, p=0.002), and the T allele was more frequent in patients (52.5% vs 41.4%, p=0.027). FasL IVS2nt-124 A/A genotype (rs5030772) was 3.4-fold higher in patients (OR 3.488, p=0.039). No significant associations were found for Fas polymorphisms with disease severity, though Fas-670 A/G (rs1800682) was associated with medication type (p=0.049).

This case-control study investigated associations between Fas and FasL gene polymorphisms and knee osteoarthritis susceptibility in a Turkish population (146 patients, 102 controls). The Fas-1377 G>A polymorphism (rs2234767) showed significant association with knee OA, with the GG genotype more frequent in patients (62.4% vs 41.2%, p=0.01) and the G allele more prevalent in OA patients (81.4% vs 70.6%, p=0.005). The GA heterozygotes had reduced risk (OR=0.317, 95% CI: 0.146-0.689). Three other polymorphisms (Fas-670, FasL-844, FasL IVS2nt-124) showed no significant association.

This document is a comprehensive collection of ~1,200 cancer-related research abstracts and summaries published in various journals (2013), covering clinical trials, pharmacogenomic studies, and mutation analyses across multiple cancer types including colorectal, breast, lung, lymphoma, and other malignancies. The collection documents associations between genetic variants (SNPs and somatic mutations), gene expression patterns, and cancer treatment outcomes, including studies on KRAS, EGFR, TP53, BRAF, and pharmacogenomic variants like CYP3A4 and UGT1A1.

This association study of 377 Korean colorectal cancer patients examined 15 SNPs in 12 apoptosis-related genes as prognostic markers for survival after curative resection. RIPK1 rs2272990 (GA/AA genotype, HR=2.093, p=0.007) and CASP7 rs2227310 (GG genotype, HR=2.641, p=0.002) were significantly associated with worse disease-free survival in multivariate analysis, with similar associations for disease-specific survival. The polymorphisms showed stronger associations in colon cancer than rectal cancer.

A doctoral thesis investigating endothelin receptor antagonists (mainly bosentan) for primary prevention of pulmonary hypertension in systemic sclerosis patients. The study reviews genetic variants associated with systemic sclerosis and analyzes clinical outcomes of endothelin receptor antagonist treatment in a cohort of Spanish systemic sclerosis patients, with logistic regression analysis showing a protective effect of bosentan treatment (OR 2.2-4.1) against pulmonary hypertension development.

In 90 DLBCL patients treated with R-CHOP chemotherapy, polymorphisms in apoptosis-related genes were analyzed. The AA genotype of LTA C804A (rs1041981) was associated with worse time to progression (HR = 7.92; 95% CI = 1.42-44.18; P = 0.018), as was the GG genotype of RIPK1 G83A (rs2272990) (HR = 20.02; 95% CI = 1.59-251.52; P = 0.018). These polymorphisms may serve as prognostic markers for DLBCL treated with R-CHOP.

A case-control association study of 240 early breast cancer patients examining 12 SNPs in apoptosis-related genes found that TNFSF10 rs1131532 (F275F) was significantly associated with poor survival outcomes, with the TT genotype showing worse disease-free survival (HR = 3.304, P = 0.002), distant disease-free survival (HR = 4.757, P = 0.001), and overall survival (HR = 4.691, P = 0.002). PTGS2 rs5275 was also associated with distant disease-free survival (HR = 0.302, P = 0.041).

This study analyzed 15 apoptosis-related gene polymorphisms in 76 patients with metastatic colorectal cancer treated with capecitabine and oxaliplatin chemotherapy. The PTGS2 8473T>C (rs5275) polymorphism was found to be significantly associated with progression-free survival (p=0.038, HR=2.19, dominant model p=0.046) and overall survival (p=0.040, dominant model p=0.013) in multivariate Cox regression analysis.

PhD thesis describing comprehensive genome-wide association studies of acute anterior uveitis (AAU) in European (2,752 cases, 3,836 controls) and East Asian (821 cases, 4,898 controls) populations. European descent GWAS identified HLA-B at genome-wide significance plus 11 suggestive loci (ERAP1, NOS2, MERTK). East Asian GWAS identified HLA-B and ERAP1 at genome-wide significance plus 12 suggestive loci (GPR68, RHBDD2). Mendelian randomization confirmed ERAP1 as functionally relevant and showed genetically predicted CRP levels positively associated with AAU risk.

This study examined hemolytic anemia in 628 SLE patients from the LUMINA multiethnic cohort, analyzing associations with FCGR and Fas/FasL polymorphisms and clinical outcomes. Key findings: FCGR2B-I131T, FasL-205, and FasL-844 polymorphisms showed association with hemolytic anemia; independent risk factors for hemolytic anemia included African American ethnicity (OR 4.21), thrombocytopenia (OR 2.38), and azathioprine use (OR 2.25). Hemolytic anemia was associated with damage accrual but not mortality.

Retrospective case-control study of 222 systemic sclerosis patients with digital ulcers examining whether endothelin receptor antagonist bosentan reduces pulmonary hypertension risk. Bosentan treatment was associated with lower pulmonary hypertension incidence (14% vs 28% in controls, p<0.05) and better echocardiographic parameters in multivariate analysis.